LOCUS AF035753 3292 bp DNA linear HUM 25-JUL-2016 DEFINITION Homo sapiens endoglin (END) gene, promoter region, exon 1 and partial cds. ACCESSION AF035753 VERSION AF035753.1 KEYWORDS . SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 3292) AUTHORS Rius,C., Smith,J.D., Almendro,N., Langa,C., Botella,L.M., Marchuk,D.A., Vary,C.P. and Bernabeu,C. TITLE Cloning of the promoter region of human endoglin, the target gene for hereditary hemorrhagic telangiectasia type 1 JOURNAL Blood 92 (12), 4677-4690 (1998) PUBMED 9845534 REFERENCE 2 (bases 1 to 3292) AUTHORS Smith,J.D., Ruis,C., Marchuk,D.A., Bernabeu,C. and Vary,C.P.H. TITLE Direct Submission JOURNAL Submitted (24-NOV-1997) Center for Molecular Medicine, Maine Medical Center Research Institute, 125 John Roberts Rd., South Portland, ME 04106, USA FEATURES Location/Qualifiers source 1..3292 /organism="Homo sapiens" /mol_type="genomic DNA" /db_xref="taxon:9606" /chromosome="9" /map="9q33" /clone="cosmid 149H12" gene 1..>3292 /gene="END" repeat_region 1659..1955 /gene="END" /rpt_family="Alu" /rpt_type=dispersed mRNA 2619..>3034 /gene="END" /product="endoglin" exon 2619..3034 /gene="END" /number=1 CDS 2968..>3034 /gene="END" /function="TGF-beta binding protein" /codon_start=1 /product="endoglin" /protein_id="AAC32802.1" /translation="MDRGTLPLAVALLLASCSLSPT" BASE COUNT 619 a 1067 c 881 g 725 t ORIGIN 1 ccgcggtggt cccaatctct tccttcctcc atgaggtgtc tggggtcggg gccccagttc 61 ttcctggagt ccatctggag tctctcctac tttctagaga atccattggg tcttgtttac 121 aacgtggatg gggacagact gtgcagcgtg gagggaaggg gagggaggga ggtttgggaa 181 gagcctcctg tggggtcctg tcactgcccc agatgcccca acaccctgtg atacctgcac 241 ccctgccaca tctgtccctc actccaaact cagctcaagg ggatggtggc agggaagaag 301 gtgagcttgg aacccaggca gccctggggt caccacctcc agctggggtt cctcctctgt 361 aaagtggagg tataacggta cccacctcct ggggtggctg tgaggattca gagctgataa 421 ggtgaacgcc tagggcgggc cctggtgcag agagagcgct cagctcctag gctggattaa 481 ctgtccctgg ggcacagatc tcggtctggg gcctgtggaa acctcagagc cacccctgaa 541 cccccaccga gccacctttg cctcgcagtg ccatggcctc gtctccgagt tacaggaaaa 601 ggcagagaat gcccttctca ggtggccctc tgggagagac actctccttg actccaaagc 661 cacgcttggc tgcaaactgg gccagcacca caaggctggg caagcaaaca tcctaatccc 721 accaaaacca caccgacctc caccctgtga cactctgcaa caaacacacg gcctactctt 781 gtcacccggg ccggccaata agcacggaag aggcaaggcc tcagaccctg gacagacatc 841 ctccctccag aggcacccag ggcctcagcc ttctcctccc tccctggcct caatttctcc 901 acctgtgacc cagggcaggt ggatccaggg agaagaacct tctggctcca tctcaccgtg 961 ggtcctgcca gcacacacaa agatttggcc tctcaaagcc tagctctgcc agcgtccttc 1021 tgctcaagaa ctctccatga ctcccagtgg ccctaaggac aaagtcctgg catttgaggc 1081 cctcccaatg cagggccaga ctctgcctct ccagcttcct gtccccacca cacccctgct 1141 gtctcacggt ggtccgactg tttcctgctt ctgttgcttt gcttagtctg gcaccctgct 1201 ggcatgcttt ctcacccttc ttccccaatc ccaactcacc cagtctttca aagggcaggc 1261 taaataccag gcctccaggt ggcccaggat tcttctctga gctttcatgg gcctggccct 1321 gggtgctacc tgtgagtagt cccacggtgg gtacatagta ggtgcgctta ctgtttgcaa 1381 gaatgaacat gggacagttt ggggactgtc acccagctca gggagcactg atggggaagc 1441 atctcctgta tgtcccaggg ctcagtgctg tagtgtcctg accctcagaa atctcataat 1501 ggcttggtca ggaaggcatc gtgccccact ttgcaaacag ggggtgctga gaattgaggg 1561 gccttgtcca aggtctcatg gctaggagca agcagaatcg gatttgaacc cagggccacg 1621 tgacttcaga agtgccatta aagtccccat aatttggagc tgtcttcttt ttttttttct 1681 tttctttttt tttgagaccg agcctcactc tgtcacctag gccaggagtg cagtggtctg 1741 atctcagctc actgcaacct ccgcctccta ggttcaagtg attctctagc ctcagcctcc 1801 caagtagctg ggactacagg cgcacgtcat catgcccagc taacttttgt atttttagta 1861 gagatgggtt ttcaccatgt tggtcaggct ggtctcgaac tcctgacctc aagtgatccg 1921 tctgcctcgg cctctcaaag tgctgggatt ataaggcttg agccactaca ctcggcctgg 1981 agctgtgttt tgtcggtgaa ggattttcca cccatgaagg ggtcagacgt gaagtgtgtg 2041 gccctgggca gctcctctga gcccagagac gccagcccta gccgccttgc tgtgccactt 2101 tgggacttcc ctccctagcc tgagcttcag ttttcctgcc tgttaggcag ccccatgtca 2161 actgcactta gtaggccggg tttgatgccc gacaagacgt gaagtggtgg aggtgggcag 2221 gatcccagcg ctaccatctt cttgaaccag tgatctcaac acatcggatt tctgtttcct 2281 catctgcaaa atgggatcag tgagctcagg tgggtcacaa attctacagg aactacttta 2341 gccaagcccg gccccctgaa agttcccctc ggtgggctgt tagggtgatt gttttcatct 2401 gtggggctcc tgatgcgtcc cacccaccag ccttggagag ggtgggatgg gagggtgggg 2461 tgcttgggga gacaagccta gagcctgggc ctcccacccc actgcctccc cccatcccag 2521 ggccccccac ccagtgacaa agcccgtggc acttcctcta cccggttggc aggcggcctg 2581 gcccagcccc ttctctaagg aagcgcattt cctgcctccc tgggccggcc gggctggatg 2641 agccgggagc tccctgctgc cggtcatacc acagccttca tctgcgccct ggggccagga 2701 ctgctgctgt cactgccatc cattggagcc cagcaccccc tccccgccca tccttcggac 2761 agcaactcca gcccagcccc gcgtccctgt gtccacttct cctgaccctc ggccgccacc 2821 ccagaaggct ggagcaggga cgccgtcgct ccggccgcct gctcccctcg ggtccccgtg 2881 cgagcccacg ccggccccgg tgcccgcccg cagccctgcc actggacaca ggataaggcc 2941 cagcgcacag gcccccacgt ggacagcatg gaccgcggca cgctccctct ggctgttgcc 3001 ctgctgctgg ccagctgcag cctcagcccc acaagtaggt gtccagggac ccagggtggg 3061 gagactcggc ctccggtgca cggaccaggc cccaagtatt cccggcctcc ttcctgtatc 3121 ctgagctcac gcccagcaga gccatccttg gggctctgga gggtcaccaa ccctcccagt 3181 ttgctggaac taaatggtta tgcaggactt tcagtgttga aagaaagcct cgggcaaact 3241 gggctgactc tttcacttta accctggtct ctggcgtctg ctcacccagc tg //